%0 Case Reports
%T Autosomal recessive ALOX12B gene and consecutive collodion baby.
%A Thakur K
%A Sehgal A
%A Goel B
%A Chaudhary M
%J BMJ Case Rep
%V 17
%N 3
%D 2024 Mar 21
%M 38514164
暂无%R 10.1136/bcr-2023-257608
%X Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our patient had a mutation in R-type arachidonate 12-lipoxygenase gene (ALOX12B, OMIM*603741).